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18 results found

Carney-Stratakis syndrome

Carney-Stratakis syndrome is a rare autosomal dominant condition comprising of familial paraganglioma and gastric stromal sarcoma. Terminology It is considered to be distinct from, but perhaps related to, the Carney triad 1. Neither should be confused with the unrelated Carney complex. Histor...

Drash syndrome

Drash syndrome, also known as the Denys-Drash syndrome, is associated with an abnormal WT1 gene (Wilms tumor gene) and consists of: Wilms tumor male pseudohermaphroditism progressive glomerulonephritis

Familial adenomatous polyposis syndrome

Familial adenomatous polyposis syndrome (FAPS) is characterized by the presence of hundreds of adenomatous polyps in the colon. It is the most common of the polyposis syndromes. Terminology Familial polyposis coli, attenuated familial adenomatous polyposis and Gardner syndrome are all variants...

Familial atypical multiple mole melanoma syndrome

Familial atypical multiple mole melanoma (FAMMM) syndrome is an autosomal dominant genodermatosis characterized by multiple melanocytic nevi (often more than 50) and a family history of melanoma. Pathology Genetics It is associated with mutations in the CDKN2A gene and shows reduced penetranc...

Hemophagocytic lymphohistiocytosis

Hemophagocytic lymphohistiocytosis (HLH), also known as macrophage activation syndrome when occurring in the setting of a rheumatologic disorder, is a non-malignant but often-fatal disorder of immune dysregulation affecting multiple organs. Epidemiology It typically affects infants and young c...

Hand-foot syndrome (chemotherapy)

Hand-foot syndrome, also known as palmar-plantar erythrodysaesthesia or Burgdorf reaction, is a benign, aseptic, self-limiting complication of many chemotherapeutic agents characterized by a widespread erythema, edema and ulceration of the hands and feet.  Causative drugs Many chemotherapeutic...

Hyperparathyroidism-jaw tumor syndrome

Hyperparathyroidism-jaw tumor syndrome is an extremely rare condition where a gene mutation results in hyperparathyroidism in association with both benign and malignant tumors, most notably, tumors in the mandible or maxilla 2. Epidemiology Approximately 200 cases have been reported in the med...

Lambert-Eaton myasthenic syndrome

Lambert-Eaton myasthenic syndrome (LEMS) is a rare neuromuscular junction disorder of paraneoplastic or primary autoimmune etiology. Epidemiology LEMS is the second most common neuromuscular junction disease after myasthenia gravis.  Two-thirds of LEMS present as a paraneoplastic syndrome sec...

Paraneoplastic syndromes

Paraneoplastic syndromes occur secondary to the indirect effects of a malignancy and occur remotely to the primary malignancy. Symptoms are mediated by cytokines, hormones or immune cross-reactivity. These syndromes can cause a diverse range of symptoms and can affect multiple systems. Epidemio...

POEMS syndrome

POEMS syndrome is the acronymic name for a rare multisystem paraneoplastic disorder comprising of a minimum of three of the following features in the setting of a plasma cell dyscrasia: P: polyneuropathy O: organomegaly hepatomegaly, splenomegaly or lymphadenopathy E: endocrinopathy diabete...

Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (RTS) is a very rare genetic multi-system disorder primarily characterized by intellectual disability, broad and often angulated thumbs and halluces, and distinctive facial features. Epidemiology The estimated incidence is 1 in 100,000-125,000 live births 5. Clinical...

Sezary syndrome

Sézary syndrome (SS) is a type of cutaneous T-cell lymphoma. It is sometimes considered an advanced and leukemic form of cutaneous T-cell lymphoma (CTCL). Clinical presentation It is clinically characterized by an extensive erythematous rash covering most of the body as well as the presence of...

Superior vena cava obstruction

Superior vena cava (SVC) obstruction can occur from extrinsic compression, intrinsic stenosis, or thrombosis. Malignancies are the main cause and are considered an oncologic emergency. Superior vena cava syndrome (SVCS) refers to the clinical syndrome with symptoms that results from this obstruc...

Sweet syndrome

Sweet syndrome (acute febrile neutrophilic dermatosis) is characterized by a constellation of clinical symptoms, physical features, and pathologic findings which include: fever neutrophilia tender erythematous skin lesions (papules, nodules, and plaques) a diffuse infiltrate consisting predo...

Syndrome of inappropriate antidiuretic hormone secretion

Syndrome of inappropriate antidiuretic hormone secretion (SIADH or SIAD) was described in patients with lung cancer who developed hyponatremia associated with continued urinary sodium loss. The result is often dilutional hyponatremia in which the sodium remains normal but total body fluid increa...

Trousseau syndrome

Trousseau syndrome (not to be confused with Trousseau sign) represents the association between migratory thrombophlebitis and malignancy, particularly mucin producing tumors; hence one of its other names: cancer-associated thromboembolism 1. History and etymology  Armand Trousseau (1801-1867),...

Von Hippel-Lindau disease

Von Hippel-Lindau (vHL) disease is characterized by the development of numerous benign and malignant tumors in different organs (at least 40 types 1) due to mutations in the VHL tumor suppressor gene on chromosome 3. Epidemiology The disease is rare with an estimated prevalence of 1:35,000-50,...

WAGR syndrome

The WAGR syndrome stands for: Wilms tumors (greatly increased risk) aniridia genital anomalies intellectual retardation (disability) Pathology Genetics Occurs from a mutation related to chromosome 11p13 3 which is in close proximity to the WT1 gene.

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